Incidental Mutation 'R4246:Lamtor5'
ID 320414
Institutional Source Beutler Lab
Gene Symbol Lamtor5
Ensembl Gene ENSMUSG00000087260
Gene Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
Synonyms 1110003H18Rik, Hbxip
MMRRC Submission 041062-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4246 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107186174-107191398 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107186354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
Ref Sequence ENSEMBL: ENSMUSP00000129012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145735] [ENSMUST00000199317]
AlphaFold Q9D1L9
Predicted Effect probably benign
Transcript: ENSMUST00000145735
AA Change: V41A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129012
Gene: ENSMUSG00000087260
AA Change: V41A

DomainStartEndE-ValueType
Pfam:LAMTOR5 55 142 2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199317
SMART Domains Protein: ENSMUSP00000143494
Gene: ENSMUSG00000087260

DomainStartEndE-ValueType
Pfam:LAMTOR5 1 88 2.1e-37 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ak1 A G 2: 32,523,384 (GRCm39) T151A possibly damaging Het
Asxl3 A G 18: 22,658,557 (GRCm39) D2189G probably damaging Het
Ccdc91 C T 6: 147,493,646 (GRCm39) A346V unknown Het
Dnah6 C T 6: 73,106,431 (GRCm39) E1769K probably benign Het
Dock6 A T 9: 21,750,786 (GRCm39) probably null Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glyatl3 T A 17: 41,220,989 (GRCm39) D126V probably benign Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Igkv8-21 T A 6: 70,292,436 (GRCm39) M1L possibly damaging Het
Itih4 C A 14: 30,613,359 (GRCm39) H261N probably damaging Het
Jpt1 T C 11: 115,405,119 (GRCm39) probably benign Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Klhl32 A C 4: 24,800,822 (GRCm39) S3A possibly damaging Het
Kmt2d C T 15: 98,737,970 (GRCm39) probably benign Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrfn1 G T 7: 28,159,367 (GRCm39) V429L probably benign Het
Mapkbp1 T A 2: 119,843,508 (GRCm39) I252N probably damaging Het
Nelfa A G 5: 34,056,373 (GRCm39) F464S probably damaging Het
Nipbl G A 15: 8,361,916 (GRCm39) L1454F probably damaging Het
Nr4a3 C T 4: 48,083,125 (GRCm39) P553S possibly damaging Het
Nrg3 G A 14: 39,194,198 (GRCm39) T187I possibly damaging Het
Or5m5 T A 2: 85,814,624 (GRCm39) C147S possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pcdha8 A G 18: 37,125,950 (GRCm39) E144G probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pira1 C T 7: 3,740,348 (GRCm39) G291E probably damaging Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Ppp1r3a T A 6: 14,719,780 (GRCm39) E378V probably damaging Het
Psd2 T C 18: 36,139,172 (GRCm39) L540P probably damaging Het
Rnf14 T A 18: 38,434,701 (GRCm39) probably null Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3d19 G A 3: 86,033,995 (GRCm39) V783I probably benign Het
Snca T C 6: 60,710,149 (GRCm39) E110G possibly damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trhr A T 15: 44,096,856 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tuft1 C A 3: 94,522,108 (GRCm39) M319I probably benign Het
Vill C A 9: 118,889,461 (GRCm39) N132K probably damaging Het
Wars2 T A 3: 99,123,904 (GRCm39) V255E probably damaging Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Other mutations in Lamtor5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Lamtor5 APN 3 107,186,324 (GRCm39) missense probably benign 0.03
R0419:Lamtor5 UTSW 3 107,189,227 (GRCm39) missense probably damaging 0.96
R5433:Lamtor5 UTSW 3 107,189,323 (GRCm39) missense probably benign 0.09
R7246:Lamtor5 UTSW 3 107,189,336 (GRCm39) missense probably damaging 1.00
R9277:Lamtor5 UTSW 3 107,186,404 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- GATTGCTTTGAAGGCCCAGC -3'
(R):5'- TACTACCCAGTAACGAGCGG -3'

Sequencing Primer
(F):5'- TTTGAAGGCCCAGCACCCC -3'
(R):5'- TAGGCAGAAGTCACCCGCTC -3'
Posted On 2015-06-12